ClinVar for Gene (Select 27289) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314652	NM_014470.4(RND1):c.421C>T (p.His141Tyr)	RND1 (H141Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244281	NC_000012.11:g.(?_49162374)_(49437585_?)dup	ADCY6, ARF3 +10 more	Duplication	Kabuki syndrome	GUncertain significance
Select item 3154888	NM_014470.4(RND1):c.95T>G (p.Val32Gly)	RND1 (V32G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154886	NM_014470.4(RND1):c.11G>T (p.Arg4Ile)	LOC130007799, RND1 (R4I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623036	NM_014470.4(RND1):c.637C>A (p.Arg213Ser)	RND1 (R213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407992	NM_014470.4(RND1):c.434C>T (p.Ala145Val)	RND1 (A145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373928	NM_014470.4(RND1):c.446A>G (p.Tyr149Cys)	RND1 (Y149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287247	NM_014470.4(RND1):c.614A>C (p.Lys205Thr)	RND1 (K205T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260258	NM_014470.4(RND1):c.627C>A (p.His209Gln)	RND1 (H209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 870981	NM_014470.4(RND1):c.108T>C (p.Asp36=)	RND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688471	GRCh37/hg19 12q13.11-13.12(chr12:48944713-49265377)x3	KANSL2, LALBA +5 more	Copy number gain	not provided	GUncertain significance
Select item 633775	GRCh37/hg19 12q13.11-13.12(chr12:49034325-49468966)x1	ADCY6, ARF3 +13 more	Copy number loss	Kabuki syndrome 1	GPathogenic
Select item 563945	GRCh37/hg19 12q13.12(chr12:49191810-49630201)x3	CCDC65, WNT10B +14 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394378	GRCh37/hg19 12q13.11-13.12(chr12:48961450-49255821)x3	ADCY6, CACNB3 +5 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 23